Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001390405 | SCV001592130 | pathogenic | not provided | 2020-04-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10909849, 20507924, 24944099, 25649381). This variant has not been reported in the literature in individuals with USH2A-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr98Asnfs*10) in the USH2A gene. It is expected to result in an absent or disrupted protein product. |